Aliases for FBLN5 Gene
External Ids for FBLN5 Gene
Previous GeneCards Identifiers for FBLN5 Gene
The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
GeneCards Summary for FBLN5 Gene
FBLN5 (Fibulin 5) is a Protein Coding gene. Diseases associated with FBLN5 include Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration and Cutis Laxa, Autosomal Recessive, Type Ia. Among its related pathways are MAPK-Erk Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and transmembrane signaling receptor activity. An important paralog of this gene is EFEMP2.
UniProtKB/Swiss-Prot Summary for FBLN5 Gene
Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108).